Kabuki Syndrome Treatment News and Information

What is Kabuki Syndrome? (Definition)

According to The National Institutes of Health, Kabuki syndrome is a disorder which affects many different parts of the body. Kabuki Syndrome is characterized by distinctive facial features including arched eyebrows; long eyelashes; long openings of the eyelids (long palpebral fissures) with the lower lids turned out at the outside edges; a flat, broadened tip of the nose; and large protruding earlobes. The name of this disorder comes from the resemblance of its characteristic facial appearance to stage makeup used in traditional Japanese theater called Kabuki.

People with Kabuki syndrome have developmental delay and intellectual disability that range from mild to severe. Affected individuals may also have seizures, an unusually small head size (microcephaly), or weak muscle tone (hypotonia). Some have eye problems such as rapid, involuntary eye movements (nystagmus) or eyes that do not look in the same direction (strabismus).

See below for updated news and information regarding Kabuki Syndrome including new medical research, treatment options and advancements. 

Latest Kabuki Syndrome Treatment News and Research

Kabuki Syndrome Research News: Low-Carb Diet Alleviates Inherited Form of Intellectual Disability in Mice

(SOURCE: JOHNS HOPKINS MEDICINE) - Finding could lead to treatment for Kabuki syndrome in people. Experimenting on mice with a genetic change similar to that found in people with a rare inherited disease called Kabuki syndrome,  Johns Hopkins scientists report that a very low-carbohydrate diet can “open up” DNA and improve mental function. Along with providing a potential treatment for memory and ...
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